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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain | 88 | 43 |
|
Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain | 152 | 97 |
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Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain | 113 | 37 |
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Holoprosencephaly panel. 12-gene NGS panel. Genologica Medica Spain | 27 | 12 |
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Gastrointestinal atresia panel. NGS panel of 13 genes. Genologica Medica Spain | 19 | 13 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
GLI3 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 4 | 1 |
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POSTAXIAL POLYDACTYLY TYPES A/B Laboratorio de Genetica Clinica SL Spain | 1 | 1 |
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Postaxial Polidactilia Type A1 and B , Sequencing GLI3 Gene Reference Laboratory Genetics Spain | 1 | 1 |
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Invitae Overgrowth and Macrocephaly Syndromes Panel Invitae United States | 43 | 20 |
|
Asper Biogene Asper Biogene LLC Estonia | 38 | 24 |
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CeGaT GmbH Germany | 19 | 20 |
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Potentially lethal skeletal disorders Panel CeGaT GmbH Germany | 45 | 44 |
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CeGaT GmbH Germany | 4 | 1 |
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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.